| Achondroplasie |
FGFR3 |
134934 |
| Aicardi-Goutières syndroom |
ADAR |
146920 |
| Aicardi-Goutières syndroom |
IFIH1 |
606951 |
| Aicardi-Goutières syndroom |
RNASEH2A |
606034 |
| Aicardi-Goutières syndroom |
RNASEH2B |
610326 |
| Aicardi-Goutières syndroom |
RNASEH2C |
610330 |
| Aicardi-Goutières syndroom |
SAMHD1 |
606754 |
| Aicardi-Goutières syndroom |
TREX1 |
606609 |
| Alzheimer, ziekte van |
APP |
104760 |
| Alzheimer, ziekte van |
PSEN1 |
104311 |
| Alzheimer, ziekte van |
PSEN2 |
600759 |
| Autisme |
AUTS2 |
607270 |
| Autisme |
HEPACAM |
611642 |
| Autisme |
SHANK3 |
606230 |
| Basaalcel naevus syndroom / Gorlin syndroom BCNS |
PTCH1 |
601309 |
| Basaalcel naevus syndroom / Gorlin syndroom |
PTCH1 |
601309 |
| Birt-Hogg-Dubé syndroom BHD |
FLCN |
607273 |
| Blackfan-Diamond anemie |
ADA2 |
607575 |
| Blackfan-Diamond anemie |
GATA1 |
305371 |
| Blackfan-Diamond anemie |
RPL11 |
604175 |
| Blackfan-Diamond anemie |
RPL15 |
604174 |
| Blackfan-Diamond anemie |
RPL17 |
603661 |
| Blackfan-Diamond anemie |
RPL26 |
603704 |
| Blackfan-Diamond anemie |
RPL27 |
607526 |
| Blackfan-Diamond anemie |
RPL31 |
617415 |
| Blackfan-Diamond anemie |
RPL35A |
180468 |
| Blackfan-Diamond anemie |
RPL5 |
603634 |
| Blackfan-Diamond anemie |
RPS10 |
603632 |
| Blackfan-Diamond anemie |
RPS15A |
603674 |
| Blackfan-Diamond anemie |
RPS17 |
180472 |
| Blackfan-Diamond anemie |
RPS19 |
603474 |
| Blackfan-Diamond anemie |
RPS24 |
602412 |
| Blackfan-Diamond anemie |
RPS26 |
603701 |
| Blackfan-Diamond anemie |
RPS27 |
603702 |
| Blackfan-Diamond anemie |
RPS28 |
603685 |
| Blackfan-Diamond anemie |
RPS29 |
603633 |
| Blackfan-Diamond anemie |
RPS7 |
603658 |
| Blackfan-Diamond anemie |
RPS8 |
600357 |
| Blackfan-Diamond anemie |
TSR2 |
300945 |
| Blepharophimosis ptosis en epicanthus inversus syndroom BPES |
FOXL2 |
605597 |
| Borstkanker |
PALB2 |
610355 |
| Carpenter syndroom |
RAB23 |
606144 |
| Cerebroretinal microangiopathy met calcificaties en cysten CTC1 |
CTC1 |
613129 |
| Ciliaire dyskinesie |
CCDC114 |
615038 |
| Craniosynostose |
ERF |
611888 |
| Craniosynostose |
FGFR1 |
136350 |
| Craniosynostose |
FGFR2 |
176943 |
| Craniosynostose |
FGFR3 |
134934 |
| Craniosynostose |
TWIST1 |
601622 |
| Ehlers-Danlos syndroom EDS |
COL3A1 |
120180 |
| Ehlers-Danlos syndroom vasculaire type |
COL3A1 |
120180 |
| Fanconi anemie |
BRIP1 |
605882 |
| Fanconi anemie |
FANCA |
607139 |
| Fanconi anemie |
FANCB |
300515 |
| Fanconi anemie |
FANCC |
613899 |
| Fanconi anemie |
FANCE |
613976 |
| Fanconi anemie |
FANCF |
613897 |
| Fanconi anemie |
FANCG |
602956 |
| Fanconi anemie |
FANCI |
611360 |
| Fanconi anemie |
FANCL |
608111 |
| Fanconi anemie |
PALB2 |
610355 |
| Fanconi anemie |
RAD51C |
602774 |
| Fibrodysplasia ossificans progressief FOP |
ACVR1 |
102576 |
| Foetale akinesie |
MUSK |
601296 |
| Frontotemporale dementie FTD |
CHMP2B |
609512 |
| Frontotemporale dementie FTD |
GRN |
138945 |
| Frontotemporale dementie FTD |
MAPT |
157140 |
| Frontotemporale dementie FTD |
PSEN1 |
104311 |
| Hyperferritinemie-cataract syndroom |
FTL |
134790 |
| Hypochondroplasie |
FGFR3 |
134934 |
| Hypomyelinating leukodystrophy 3 |
AIMP1 |
603605 |
| Hypomyelinating leukodystrophy 4 |
HSPD1 |
118190 |
| Hypomyelinating leukodystrophy 5 met congenitaal cataract HCC |
FAM126A |
610531 |
| Hypomyelinating leukodystrophy 6 |
TUBB4A |
602662 |
| Hypomyelinating leukodystrophy type 11 4H syndroom |
POLR1C |
610060 |
| Hypomyelinating leukodystrophy type 14 |
UFM1 Select exon |
610553 |
| Hypomyelinating leukodystrophy type 7 4H syndroom |
POLR3A |
614258 |
| Hypomyelinating leukodystrophy type 8 4H syndroom |
POLR3B |
614366 |
| Hypomyelinating leukodystrophy |
TMEM106B |
613413 |
| Hypomyelinating leukodystrophy |
TMEM63A |
618685 |
| Hypomyelination of early myelinating structures HEMS |
PLP1 |
300401 |
| Hypomyelination with spondylometaphyseal dysplasia X-linked |
AIFM1 |
300169 |
| Interstitiële longziekte |
ABCA3 |
601615 |
| Interstitiële longziekte |
FOXF1 |
601089 |
| Interstitiële longziekte |
ITGA3 |
605025 |
| Interstitiële longziekte |
SFTPB |
178640 |
| Interstitiële longziekte |
SFTPC |
178620 |
| Kleine gestalte idiopathische X-gebonden |
SHOX |
312865 |
| Langer mesomele dysplasie |
SHOX |
312865 |
| Léri-Weill dyschondrosteosis |
SHOX |
312865 |
| Leukoencephalopathy diffuse hereditary, with spheroids |
CSF1R |
164770 |
| Leukoencephalopathy with ataxia |
CLCN2 |
600570 |
| Leukoencephalopathy, brain calcifications, and cysts |
SNORD118 |
616663 |
| Leukoencephalopathy, cystic, zonder megalencefalie |
RNASET2 |
612944 |
| Li-Fraumeni syndroom |
TP53 |
191170 |
| Marfan syndroom |
FBN1 |
134797 |
| Metafysaire chondrodysplasie Schmid-type |
COL10A1 |
120110 |
| Obesitas |
MC4R |
155541 |
| Osteogenesis imperfecta alle types |
COL1A1 |
120150 |
| Ovariumkanker |
BRIP1 |
605882 |
| Ovariumkanker |
PALB2 |
610355 |
| Ovariumkanker |
RAD51C |
602774 |
| Parkinson, ziekte van |
LRRK2 (PARK8) |
609007 |
| Parkinson, ziekte van |
PARK7 |
602533 |
| Parkinson, ziekte van |
PINK1 (PARK6) |
608309 |
| Parkinson, ziekte van |
PRK2 (PARK2) |
602544 |
| Parkinson, ziekte van |
SNCA (PARK1) |
163890 |
| Pelizaeus-Merzbacher-like disease, autosomaal recessief |
GJC2 |
608803 |
| Pelizaeus-Merzbacher, ziekte van |
PLP1 |
300401 |
| Peutz-Jeghers syndroom PJS |
STK11 |
602216 |
| Porencephalie |
COL4A1 |
120130 |
| Porencephalie |
COL4A2 |
120090 |
| Pulmonale arteriële hypertensie idiopathische - IPAH |
BMPR2 |
600799 |
| Roberts syndroom |
ESCO2 |
609353 |
| Saethre-Chotzen syndroom SCS |
TWIST1 |
601622 |
| Spastische paraplegie X-gebonden type 2 SPG2 |
PLP1 |
300401 |
| Spastische paraplegie, type 35 |
FA2H |
611026 |
| Supravalvulaire aortastenose |
ELN |
130160 |
| Surfactant proteïne B deficïentie |
SFTPB |
178640 |
| Thanatofore dysplasie |
FGFR3 |
134934 |
| Van der Woude syndroom |
IRF6 |
607199 |
| Williams-Beuren syndroom WBS |
ELN |
130160 |